{"symbol":"VAC14","synonyms":["ARPIKFYVE","TAX1BP2"],"name":"Vac14 homolog (S. cerevisiae)","description":"This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]","ncbiEntrezGeneId":55697,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/55697","proteins":[{"symbol":"VAC14_HUMAN","href":"/api/1.0/protein/VAC14_HUMAN"}],"hgncRootFamilies":[]}